In addition to genetic alterations, epigenetic abnormalities have been shown to underlie the pathogenesis of acute lymphoblastic leukemia (ALL)—the most common pediatric cancer. The purpose of this study was to characterize the whole genome DNA methylation profile in children with precursor B-cell ALL (BCP ALL) and to compare this profile with methylation observed in normal bone marrow samples. Additional efforts were made to correlate the observed methylation patterns with selected clinical features. We assessed DNA methylation from bone marrow samples obtained from 38 children with BCP ALL at the time of diagnosis along with 4 samples of normal bone marrow cells as controls using Infinium MethylationEPIC BeadChip Array. Patients were diagnosed and stratified into prognosis groups according to the BFM ALL IC 2009 protocol. The analysis of differentially methylated sites across the genome as well as promoter methylation profiles allowed clear separation of the leukemic and control samples into two clusters. 86.6% of the promoter-associated differentially methylated sites were hypermethylated in BCP ALL. Seven sites were found to correlate with the BFM ALL IC 2009 high risk group. Amongst these, one was located within the gene body of the MBP gene and another was within the promoter region- PSMF1 gene. Differentially methylated sites that were significantly related with subsets of patients with ETV6-RUNX1 fusion and hyperdiploidy. The analyzed translocations and change of genes’ sequence context does not affect methylation and methylation seems not to be a mechanism for the regulation of expression of the resulting fusion genes.
Ewing sarcoma is the second most common type of primary bone cancer and predominantly affects children and young people. Improved outcome prediction is key to delivering risk-adjusted, appropriate and effective care to cancer patients. Advances in the Fourier Transform Infrared (FTIR) spectroscopy of tissues enable it to be a non-invasive method to obtain information about the biochemical content of any biological sample. In this retrospective study, attenuated tissue reflection FTIR spectroscopy of biopsy samples from paediatric patients reveals spectral features that are diagnostic for Ewing Sarcoma. Furthermore, our results suggest that spectral features such as these may be of value for the prediction of treatment outcome independent to well-known, routinely used risk factors.
Industry 4.0, a term invented by Wolfgang Wahlster in Germany, is celebrating its 10th anniversary in 2021. Still, the digitalization of the production environment is one of the hottest topics in the computer science departments at universities and companies. Optimization of production processes or redefinition of the production concepts is meaningful in light of the current industrial and research agendas. Both the mentioned optimization and redefinition are considered in numerous subtopics and technologies. One of the most significant topics in these areas is the newest findings and applications of artificial intelligence (AI)—machine learning (ML) and deep convolutional neural networks (DCNNs). The authors invented a method and device that supports the wiring assembly in the control cabinet production process, namely, the Wire Label Reader (WLR) industrial system. The implementation of this device was a big technical challenge. It required very advanced IT technologies, ML, image recognition, and DCNN as well. This paper focuses on an in-depth description of the underlying methodology of this device, its construction, and foremostly, the assembly industrial processes, through which this device is implemented. It was significant for the authors to validate the usability of the device within mentioned production processes and to express both advantages and challenges connected to such assembly process development. The authors noted that in-depth studies connected to the effects of AI applications in the presented area are sparse. Further, the idea of the WLR device is presented while also including results of DCNN training (with recognition results of 99.7% although challenging conditions), the device implementation in the wire assembly production process, and its users’ opinions. The authors have analyzed how the WLR affects assembly process time and energy consumption, and accordingly, the advantages and challenges of the device. Among the most impressive results of the WLR implementation in the assembly process one can be mentioned—the device ensures significant process time reduction regardless of the number of characters printed on a wire.
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